|
Post by Melissa on Oct 31, 2011 10:10:05 GMT -5
hello Lana! It was great to see your posting and hear from a family with a child that has a similar deletion. I would love to "chat" with you more about your son, Derek. It would be great if you could email me @ rmdevries@xplornet.ca It is so interesting to read similarities between all these children. Fortunately Savanah does not have a cleft palate (to the doctors surprise) but she has a really high palate, recessed chin and a "tented"upper lip, so feeding and sucking are still a challenge for her. Anyways, hope to hear from you soon
|
|
|
Post by Megan on Aug 3, 2014 21:09:55 GMT -5
I know this post is old, but my son has 2q deletion of 24.3-32.1. It is a very large deletion and they don't think anyone else is documented with this same deletion. He has (had, it's been repaired) sagittal craniosynostosis, which I've seen in others wtih 24.3 deletion in some medical papers. His 2-4 toes are fused on both feet, panhypopituitarism, a fistula in his brain, hypospadias, then the usuals like wide set eyes, low ears, very fleshy earlobes, recessed chin, short neck, short arms and stature. We had a healthy pregnancy and delivery with no known complications until after he was born. He feeds entirely through a gtube and has been on oxygen for the last month since his cranio surgery.
If anyone would like to contact me you can do so at meganjfhaynes at gmail dot com
|
|
|
Post by Alina on Oct 27, 2014 9:40:53 GMT -5
Hello, my son is only 6 weeks old. He has 2 (q22 q24. 1). He born with Anus atresia. He has coloboma of retina and optic nerve in both eyes. His hands fingers are not flexible. I have no idea what to expect in the future. He eats and sleeps very well.
|
|
|
Post by Pierette on Jun 19, 2015 4:31:41 GMT -5
What a great relief for me to discover this site.I went trough all the previous messages and I feel now comfortable as I have been crying all the day and night when I have been told by the Drs that my beautiful 4 year-old daughter DOminique has a microdeletion chromosome 2.SInce she turned 2,I knew something was wrong with her speech.I told the maternal and health nurse.She referred us to a speech specialist.At home we did not notice any behaviours until she started kinder.We had bad report every time we went to pick her up and as I did not know what was wrong with her,Ia was crying all the time.She's been diagnosed with absent epilepsy,microdeletion chromosome2,severe speech problem,global physical development.That breaks my heart as none of us(my hubby and I) has this problem(from the DNA result).She started to talk a little bit.She is very active and very sweet little angel.Nil issue with walking,eating,toileting.She is quite independent and understands every single thing.As a christian,I hope that God will help and I do believe in miracles.Let share information regarding this pathology and wish to you all good luck and we have to be courageous for our kids.DO not show them our sorrow but love a nod happiness.THey are not different to other kids.
|
|